A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

(2010) Raymond Dalgleish et al.   Genome Medicine

Between proteins and phenotypes: annotation and interpretation of mutations

(2009) Christopher JO Baker et al.   BMC BIOINFORMATICS

EnzyMiner: automatic identification of protein level mutations and their impact on target enzymes from PubMed abstracts

(2009) Süveyda Yeniterzi et al.   BMC BIOINFORMATICS

OSIRISv1.2: a named entity recognition system for sequence variants of genes in biomedical literature

(2008) Laura I Furlong et al.   BMC BIOINFORMATICS

Linking genes to literature: text mining, information extraction, and retrieval applications for biology

(2008) Martin Krallinger et al.   GENOME BIOLOGY